Multi-tissue cytogenetic analysis for the diagnosis of mosaic Down syndrome: A case report.
Clin Case Rep
; 10(4): e05604, 2022 Apr.
Article
in En
| MEDLINE
| ID: mdl-35425598
ABSTRACT
Less than one percent of individuals with Down syndrome exhibit mosaicism, a biological phenomenon that describes an individual who has two or more genetically distinct cell lines. The percentage of mosaicism in different tissues can impact the presence of clinical findings and hinder cytogenetic diagnosis. We report a case of mosaicism for trisomy 21 diagnosed after multi-tissue cytogenetic analysis of peripheral blood and buccal mucosa, associated with significant intellectual disability, dysmorphic facial features, congenital heart defects, macropenis, and imperforate anus.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Type of study:
Diagnostic_studies
Language:
En
Journal:
Clin Case Rep
Year:
2022
Document type:
Article